Mutagenetix > Incidental Mutations

Incidental Mutation 'R1687:Gja3'

189454

Institutional Source

Beutler Lab

Gene Symbol

Gja3

Ensembl Gene

ENSMUSG00000048582

Gene Name

gap junction protein, alpha 3

Synonyms

Cx46, Gja-3, connexin 46, alpha 3 connexin

MMRRC Submission

039720-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R1687 (G1)

Quality Score

166

Status

Not validated

Chromosome

Chromosomal Location

57034460-57058100 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 57036876 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 13 (N13I)

Ref Sequence

ENSEMBL: ENSMUSP00000059587 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061614] [ENSMUST00000223792]

Predicted Effect

probably damaging
Transcript: ENSMUST00000061614
AA Change: N13I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000059587
Gene: ENSMUSG00000048582
AA Change: N13I

Domain	Start	End	E-Value	Type
CNX	43	76	4.4e-21	SMART
low complexity region	103	116	N/A	INTRINSIC
Connexin_CCC	165	231	3.36e-44	SMART
low complexity region	342	353	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000223792
AA Change: N13I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a connexin and is a component of lens fiber gap junctions. Defects in this gene are a cause of zonular pulverulent cataract type 3 (CZP3). [provided by RefSeq, Jan 2010]
PHENOTYPE: Homozygous mutants exhibit lens nuclear cataracts associated with breakdown of gamma crystallin. Severity of the defect is influenced by genetic background. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,293,888	F931I	probably benign	Het
Alox15	T	A	11: 70,349,918	H212L	probably benign	Het
Arhgap42	A	T	9: 9,035,537	V268D	probably benign	Het
Armc9	A	G	1: 86,156,955	M1V	probably null	Het
BB287469	A	G	12: 87,819,718	D133G	unknown	Het
Brca1	C	T	11: 101,489,840	C1789Y	probably benign	Het
Cacng4	A	G	11: 107,736,759	V138A	probably benign	Het
Camsap1	A	G	2: 25,939,615	F699S	probably damaging	Het
Ccm2	A	G	11: 6,585,118	R67G	probably damaging	Het
Cdk16	G	A	X: 20,696,659		probably null	Het
Cep85	T	C	4: 134,148,013	H546R	probably benign	Het
Cfap54	T	C	10: 92,932,640	D207G	probably damaging	Het
Cldn9	G	T	17: 23,683,076	R192S	probably benign	Het
Crybb3	A	G	5: 113,079,767	S63P	probably damaging	Het
Cux1	A	G	5: 136,312,669	L615P	probably damaging	Het
Dctn3	A	G	4: 41,715,407	Y154H	probably damaging	Het
Depdc5	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	5: 32,910,407		probably benign	Het
Dnah3	A	T	7: 120,045,786		probably null	Het
Eml6	G	A	11: 29,833,187	H565Y	probably damaging	Het
Ephb6	T	C	6: 41,617,366	V610A	probably benign	Het
Fam234a	T	C	17: 26,215,308	Y333C	probably damaging	Het
Fbln1	G	A	15: 85,227,106	V154I	probably benign	Het
Frem2	A	T	3: 53,653,952	W1045R	probably benign	Het
Fubp1	A	G	3: 152,228,201		probably benign	Het
Gpr20	C	A	15: 73,695,902	V213L	probably benign	Het
Grk5	T	C	19: 61,076,783	I295T	probably damaging	Het
Gucy1b1	A	G	3: 82,038,042	F430L	probably damaging	Het
Gzmk	T	A	13: 113,173,928	I119L	probably benign	Het
Hadh	T	C	3: 131,245,249	I153V	probably benign	Het
Hsfy2	T	C	1: 56,636,853	Y175C	probably damaging	Het
Hspa5	T	C	2: 34,775,824	I560T	probably benign	Het
Igdcc4	T	C	9: 65,131,663	V863A	probably damaging	Het
Il22ra2	A	G	10: 19,632,872	D216G	probably benign	Het
Klc2	G	A	19: 5,111,654	P303S	probably damaging	Het
Lama5	C	T	2: 180,194,066	V1192I	probably benign	Het
Mon2	A	G	10: 123,026,124	S772P	probably damaging	Het
Mphosph8	T	A	14: 56,672,478	L96Q	probably damaging	Het
Mzf1	C	A	7: 13,052,771	R124L	possibly damaging	Het
Nckap1	A	G	2: 80,520,585	I726T	probably damaging	Het
Ndnf	A	T	6: 65,703,423	T229S	probably benign	Het
Npas3	A	T	12: 54,048,875		probably null	Het
Nrap	C	T	19: 56,355,529	E729K	probably damaging	Het
Nsun2	T	A	13: 69,627,597	F387I	probably damaging	Het
Olfr743	T	C	14: 50,533,702	S97P	possibly damaging	Het
Pabpc1l	C	T	2: 164,044,306	T452M	probably benign	Het
Pcdh10	T	C	3: 45,380,015	Y255H	probably damaging	Het
Pdcd6ip	A	T	9: 113,700,019	Y72N	probably damaging	Het
Pglyrp1	A	T	7: 18,884,704		probably benign	Het
Pkp2	T	C	16: 16,268,709		probably null	Het
Ppard	A	G	17: 28,297,180	Y126C	probably damaging	Het
Prkcq	T	C	2: 11,290,533	Y598H	probably damaging	Het
Rhobtb1	A	G	10: 69,270,279	T287A	probably damaging	Het
Sema4b	T	C	7: 80,219,262	Y361H	probably damaging	Het
Slfn9	A	T	11: 82,982,157	I640N	probably damaging	Het
Smurf2	C	A	11: 106,836,070		probably null	Het
Spag5	T	C	11: 78,304,929	V354A	probably benign	Het
Sptb	T	C	12: 76,603,699	D1748G	possibly damaging	Het
St6galnac5	C	A	3: 152,981,250	L22F	probably benign	Het
Sugp2	T	C	8: 70,242,634	S86P	probably damaging	Het
Tnk1	T	C	11: 69,856,473	I111V	possibly damaging	Het
Tnni3k	T	A	3: 154,939,626	I541F	possibly damaging	Het
Trim36	G	T	18: 46,188,657	H108N	possibly damaging	Het
Ttn	T	C	2: 76,870,907		probably benign	Het
Usp28	T	A	9: 49,024,017	S89R	probably benign	Het
Vmn2r121	T	C	X: 124,132,791	D223G	probably benign	Het
Vmn2r65	T	A	7: 84,940,818	Y630F	probably benign	Het
Washc2	T	A	6: 116,256,712	S900T	probably benign	Het
Wdr72	A	G	9: 74,210,199	N731S	probably benign	Het
Xrra1	T	A	7: 99,876,244	F123L	probably damaging	Het
Zfp648	A	G	1: 154,204,242	D49G	probably benign	Het

Other mutations in Gja3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02023:Gja3	APN	14	57035679	missense	probably damaging	1.00
R0470:Gja3	UTSW	14	57036427	missense	probably damaging	1.00
R0631:Gja3	UTSW	14	57036762	missense	possibly damaging	0.95
R1455:Gja3	UTSW	14	57036385	missense	probably damaging	1.00
R2229:Gja3	UTSW	14	57036714	missense	probably damaging	1.00
R3846:Gja3	UTSW	14	57035704	nonsense	probably null
R5337:Gja3	UTSW	14	57035832	missense	probably benign	0.22
R5797:Gja3	UTSW	14	57035713	missense	probably damaging	0.98
R5940:Gja3	UTSW	14	57035860	missense	probably damaging	0.99
R7226:Gja3	UTSW	14	57035893	missense	probably benign	0.01
R8066:Gja3	UTSW	14	57035806	missense	probably benign	0.00
Z1088:Gja3	UTSW	14	57035815	missense	possibly damaging	0.61

Predicted Primers

PCR Primer
(F):5'- ATGATGTTGAAGACGTAGGTCCGC -3'
(R):5'- ACAGACATGTAGTCCACTCCAGGC -3'

Sequencing Primer
(F):5'- AAGATGATTTGCAGCGCCC -3'
(R):5'- AACAGCCGTGTTTCCCTT -3'

Posted On

2014-05-14